ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.17342A>G (p.Gln5781Arg)

gnomAD frequency: 0.00008  dbSNP: rs369717492
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150793 SCV000198302 uncertain significance not specified 2015-10-04 criteria provided, single submitter clinical testing The p.Gln5781Arg variant in GPR98 has not been previously reported in individual s with hearing loss, but has been identified in 2/11342 of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org;rs369717 492). Computational prediction tools and conservation analyses suggest that the Gln5781Arg variant may not impact the protein, though this information is not pr edictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Gln5781Arg variant is uncertain.
Eurofins Ntd Llc (ga) RCV000724420 SCV000232831 uncertain significance not provided 2015-01-22 criteria provided, single submitter clinical testing
Invitae RCV000724420 SCV001393643 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000724420 SCV001777656 uncertain significance not provided 2023-06-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003298156 SCV003996272 uncertain significance Inborn genetic diseases 2023-05-09 criteria provided, single submitter clinical testing The c.17342A>G (p.Q5781R) alteration is located in exon 80 (coding exon 80) of the ADGRV1 gene. This alteration results from a A to G substitution at nucleotide position 17342, causing the glutamine (Q) at amino acid position 5781 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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